Androgen Insensitivity Syndrome Differential Diagnoses
- Author: Christian A Koch, MD, PhD, FACP, FACE; Chief Editor: Stephen Kemp, MD, PhD more...
Ohba K, Hayashida Y, Hakariya H, Ichinose S, Naitou S. [A case of complete androgen insensitivity syndrome]. Hinyokika Kiyo. May 2009;55(5):277-80. [Medline].
Oakes MB, Eyvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome--a review. J Pediatr Adolesc Gynecol. Dec 2008;21(6):305-10. [Medline].
Hashmi A, Hanif F, Hanif SM, Abdullah FE, Shamim MS. Complete Androgen Insensitivity Syndrome. J Coll Physicians Surg Pak. Jul 2008;18(7):442-4. [Medline].
[Best Evidence] Dejager S, Bry-Gauillard H, Bruckert E, Eymard B, Salachas F, LeGuern E, et al. A comprehensive endocrine description of Kennedy's disease revealing androgen insensitivity linked to CAG repeat length. J Clin Endocrinol Metab. August 2002;87:3893-3901. [Medline].
Solari A, Groisman B, Bidondo MP, Cinca C, Alba L. [Complete androgen insensitivity syndrome: diagnosis and clinical characteristics]. Arch Argent Pediatr. Jun 2008;106(3):265-8. [Medline].
Philibert P, Audran F, Pienkowski C, et al. Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. Fertil Steril. May 20 2009;[Medline].
Winterborn MH, France NE, Raiti S. Incomplete testicular feminization. Arch Dis Child. Dec 1970;45(244):811-2. [Medline]. [Full Text].
Consortium on the Management of Disorders of Sex Development. Handbook for Parents. ISNA; 2006.
Garrett CC, Kirkman M. Being an XY female: an analysis of accounts from the website of the androgen insensitivity syndrome support group. Health Care Women Int. May 2009;30(5):428-46. [Medline].
[Guideline] Wierman ME, Basson R, Davis SR, et al. Androgen therapy in women: an Endocrine Society Clinical Practice guideline. J Clin Endocrinol Metab. Oct 2006;91(10):3697-710. [Medline]. [Full Text].
[Guideline] Tekgul S, Riedmiller H, Gerharz E, et al. Micropenis. Guidelines on paediatric urology. Mar 2009;[Full Text].
Amrhein JA, Meyer WJ 3rd, Jones HW Jr, Migeon CJ. Androgen insensitivity in man: evidence for genetic heterogeneity. Proc Natl Acad Sci U S A. Mar 1976;73(3):891-4. [Medline]. [Full Text].
Bals-Pratsch M, Schweikert HU, Nieschlag E. Androgen receptor disorder in three brothers with bifid prepenile scrotum and hypospadias. Acta Endocrinol (Copenh). Sep 1990;123(3):271-6. [Medline].
Batch JA, Evans BA, Hughes IA, Patterson MN. Mutations of the androgen receptor gene identified in perineal hypospadias. J Med Genet. Mar 1993;30(3):198-201. [Medline]. [Full Text].
Boczkowski K, Teter J. FAmilial male pseudohermaphroditism. Acta Endocr. 1965;49:497-509.
Bullock LP, Bardin WC. Androgen receptors in testicular feminization. J Clin Endocrinol Metab. Dec 1972;35(6):935-7. [Medline].
Charest NJ, Zhou ZX, Lubahn DB, et al. A frameshift mutation destabilizes androgen receptor messenger RNA in the Tfm mouse. Mol Endocrinol. Apr 1991;5(4):573-81. [Medline].
Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, Jaubert F, Polak M, et al. Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol. Oct 2008;180(4):1496-501. [Medline].
Consortium on the Management of Disorders of Sex Development. Clinical Guidelines for the Management of the Patient with a Disorder of Sex Development. ISNA; 2006.
Dati E, Baroncelli GI, Mora S, Russo G, Baldinotti F, Parrini D. Body composition and metabolic profile in women with complete androgen insensitivity syndrome. Sex Dev. 2009;3(4):188-93. [Medline].
Davies HR, Hughes IA, Savage MO, Quigley CA, Trifiro M, Pinsky L, et al. Androgen insensitivity with mental retardation: a contiguous gene syndrome?. J Med Genet. Feb 1997;34(2):158-60. [Medline]. [Full Text].
Edwards A, Hammond HA, Jin L, et al. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics. Feb 1992;12(2):241-53. [Medline].
Eil C. Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. Studies in cultured skin fibroblasts. J Clin Invest. Apr 1983;71(4):850-8. [Medline]. [Full Text].
Finsterer J. Bulbar and spinal muscular atrophy (Kennedy's disease): a review. Eur J Neurol. May 2009;16(5):556-61. [Medline].
French FS, Baggett B, Van Wyk J. Testicular feminization: clinical, morphological and biochemical studies. J Clin Endocr. 1965;25:661-77.
French FS, Van Wyk JJ, Baggett B, et al. Further evidence of a target organ defect in the syndrome of testicular feminization. J Clin Endocrinol Metab. May 1966;26(5):493-503. [Medline].
Galli-Tsinopoulou A, Hiort O, Schuster T, et al. A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome. J Pediatr Endocrinol Metab. Feb 2003;16(2):149-54. [Medline].
Garrett CC, Kirkman M. Being an XY female: an analysis of accounts from the website of the androgen insensitivity syndrome support group. Health Care Women Int. May 2009;30:428-446. [Medline].
Gaspar ML, Meo T, Bourgarel P, et al. A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation. Proc Natl Acad Sci U S A. Oct 1 1991;88(19):8606-10. [Medline]. [Full Text].
Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, Donti E, et al. A case of complete testicular feminisation and 47,XXY karyotype. J Med Genet. Dec 1979;16(6):480-3. [Medline]. [Full Text].
German J, Vesell M. Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Genet. 1966;9(1):5-8. [Medline].
Girardin CM, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel LK. Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype. J Pediatr. Sep 2009;155(3):439-43. [Medline].
Goldstein JL, Wilson JD. Studies on the pathogenesis of the pseudohermaphroditism in the mouse with testicular feminization. J Clin Invest. Jul 1972;51(7):1647-58. [Medline]. [Full Text].
Griffin JE. Testicular feminization associated with a thermolabile androgen receptor in culutred human fibroblasts. J Clin Invest. Dec 1979;64(6):1624-31. [Medline].
Griffin JE, Wilson JD. The syndromes of androgen resistance. N Engl J Med. Jan 24 1980;DA - 19800228(4):198-209. [Medline].
Grino PB, Griffin JE, Cushard WG Jr, Wilson JD. A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility. J Clin Endocrinol Metab. Apr 1988;66(4):754-61. [Medline].
Hughes IA, Evans BA. Complete androgen insensitivity syndrome characterized by increased concentration of a normal androgen receptor in genital skin fibroblasts. J Clin Endocrinol Metab. Aug 1986;63(2):309-15. [Medline].
Imperato-McGinley J, Ip NY, Gautier T, et al. DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity. Am J Med Genet. May 1990;36(1):104-8. [Medline].
Irvine RA, Yu MC, Ross RK, Coetzee GA. The CAG and GGC microsatellites of the androgen receptor gene are in linkage disequilibrium in men with prostate cancer. Cancer Res. May 1 1995;55(9):1937-40. [Medline].
Jagiello G, Atwell JD. Prevalence of testicular feminisatioon. Lancet. 1962;1:329.
Jukier L, Kaufman M, Pinsky L, Peterson RE. Partial androgen resistance associated with secondary 5 alpha-reductase deficiency: identification of a novel qualitative androgen receptor defect and clinical implications. J Clin Endocrinol Metab. Oct 1984;59(4):679-88. [Medline].
Kaufman M, Pinsky L, Baird PA, McGillivray BC. Complete androgen insensitivity with a normal amount of 5 alpha- dihydrotestosterone-binding activity in labium majus skin fibroblasts. Am J Med Genet. 1979;4(4):401-11. [Medline].
Kaufman M, Pinsky L, Bowin A, Au MW. Familial external genital ambiguity due to a transformation defect of androgen-receptor complexes that is expressed with 5 alpha- dihydrotestosterone and the synthetic androgen methyltrienolone. Am J Med Genet. Jul 1984;18(3):493-507. [Medline].
Kaufman M, Pinsky L, Feder-Hollander R. Defective up-regulation of the androgen receptor in human androgen insensitivity. Nature. Oct 29 1981;293(5835):735-7. [Medline].
Kaufman M, Straisfeld C, Pinsky L. Male pseudohermaphroditism presumably due to target organ unresponsiveness to androgens. Deficient 5alpha-dihydrotestosterone binding in cultured skin fibroblasts. J Clin Invest. Aug 1976;58(2):345-50. [Medline].
Keenan BS, Meyer WJ 3d, Hadjian AJ, et al. Syndrome of androgen insensitivity in man: absence of 5 alpha- dihydrotestosterone binding protein in skin fibroblasts. J Clin Endocrinol Metab. Jun 1974;38(6):1143-6. [Medline].
Kovacs WJ, Griffin JE, Weaver DD, Carlson BR, Wilson JD. A mutation that causes lability of the androgen receptor under conditions that normally promote transformation to the DNA-binding state. J Clin Invest. Apr 1984;73(4):1095-104. [Medline]. [Full Text].
Kulshreshtha B, Philibert P, Eunice M, Audran F, Paris F, Khurana ML. Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation. Andrologia. Aug 2009;41(4):257-63. [Medline].
Liao S, Witte D. Autoimmune anti-androgen-receptor antibodies in human serum. Proc Natl Acad Sci U S A. Dec 1985;82(24):8345-8. [Medline].
Lin SY, Ohno S. The binding of androgen receptor to DNA and RNA. Biochim Biophys Acta. Jul 27 1981;654(2):181-6. [Medline].
Long SE, David JS. Testicular feminisation in an Ayrshire cow. Vet Rec. Aug 8 1981;109(6):116-8. [Medline].
Lubs HA, Vilar O, Bergenstal DM. Familial male pseudohermaphroditism with labial testes and partial feminization: endocrine studies and genetic aspects. J Clin Endocr. 1959;19:1110-1120.
Lyon MF, Hawkes SG. X-linked gene for testicular feminization in the mouse. Nature. Sep 19 1970;227(5264):1217-9. [Medline].
Madden JD, Walsh PC, MacDonald PC, Wilson JD. Clinical and endocrinologic characterization of a patients with the syndrome of incomplete testicular feminization. J Clin Endocrinol Metab. Oct 1975;41(4):751-60. [Medline].
Mauvais-Jarvis P, Bercovici JP, Crepy O, Gauthier F. Studies on testosterone metabolism in subjects with testicular feminization syndrome. J Clin Invest. Jan 1970;49(1):31-40. [Medline]. [Full Text].
Meyer WJ 3rd, Migeon BR, Migeon CJ. Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sci U S A. Apr 1975;72(4):1469-72. [Medline]. [Full Text].
Muller U, Schneider NR, Marks JF, et al. Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet. Feb 1990;84(3):289-92. [Medline].
Northcutt RC, Island DP, Liddle GW. An explanation for the target organ unresponsiveness to testosterone in the testicular feminization syndrome. J Clin Endocrinol Metab. - Liddle GW;29(3):422-5. [Medline].
Oakes MB, Ezvazzadeh AD, Quint E, Smith YR. Complete androgen insensitivity syndrome - a review. J Pediatr Adolesc Gynecol. June 2008;21:305-310. [Medline].
Ohno S. The Y-linked H-Y antigen locus and the X-linked Tfm locus as major regulatory genes of the mammalian sex determining mechanism. J Steroid Biochem. May 1977;8(5):585-92. [Medline].
Ono S. Simplicity of mammalian regulatory systems inferred by single gene determination of sex phenotypes. Nature. Nov 19 1971;234(5325):134-7. [Medline].
Opitz JM, Simpson JL, Sarto GE, et al. Pseudovaginal perineoscrotal hypospadias. Clin Genet. 1972;3(1):1-26. [Medline].
Perez-Palacios G, Ortiz S, Lopez-Amor E, et al. Familial incomplete virilization due to partial end organ insensitivity to androgens. J Clin Endocrinol Metab. Nov 1975;41(5):946-52. [Medline].
Philip J, Trolle D. Familial male hermaphroditism with delayed and partial masculinization. Am J Obstet Gynecol. Dec 15 1965;93(8):1076-83. [Medline].
Pinsky L, Kaufman M, Killinger DW, Burko B, Shatz D, Volpe R. Human minimal androgen insensitivity with normal dihydrotestosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor. Am J Hum Genet. Sep 1984;36(5):965-78. [Medline]. [Full Text].
Pinsky L, Kaufman M, Levitsky LL. Partial androgen resistance due to a distinctive qualitative defect of the androgen receptor. Am J Med Genet. Jun 1987;27(2):459-66. [Medline].
Pinsky L, Kaufman M, Summitt RL. Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor. Am J Med Genet. 1981;10(1):91-9. [Medline].
Purves JT, Miles-Thomas J, Migeon C, Gearhart JP. Complete androgen insensitivity: the role of the surgeon. J Urol. Oct 2008;180(4 Suppl):1716-9. [Medline].
Quigley CA, De Bellis A, Marschke KB, et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocrine Reviews. 1995;16:271-321.
Shapiro BH, Levine DC, Adler NT. The testicular feminized rat: a naturally occurring model of androgen independent brain masculinization. Science. Jul 18 1980;209(4454):418-20. [Medline].
Stenchever MA, Jones GK, Jarvis JA. Testicular feminization syndrome. Chromosomal, histologic, and genetic studies in a large kindred. Obstet Gynecol. May 1969;33(5):649-57. [Medline].
Strickland AL, French FS. Absence of response to dihydrotestosterone in the syndrome of testicular feminization. J Clin Endocrinol Metab. Sep 1969;29(9):1284-6. [Medline].
Takeda H, Lasnitzki I, Mizuno T. Change of mosaic pattern by androgens during prostatic bud formation in XTfm/X+ heterozygous female mice. J Endocrinol. Jul 1987;114(1):131-7. [Medline].
Takeda H, Suzuki M, Lasnitzki I, Mizuno T. Visualization of X-chromosome inactivation mosaicism of Tfm gene in XTfm/X+ heterozygous female mice. J Endocrinol. Jul 1987;114(1):125-9. [Medline].
Wilson BE, Reiner WG. Management of intersex: a shifting paradigm. J Clin Ethics. Winter 1998;9(4):360-9. [Medline].
Wilson JD, Carlson BR, Weaver DD, et al. Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. Clin Genet. Oct 1984;26(4):363-70. [Medline].

